Publications by authors named "Daniela O W Rodrigues"
Manifestations of sickle cell disease (SCD) begin early in childhood and cause morbidity and decreased life expectancy. Hematopoietic stem cell transplantation (HSCT) is curative but associated with risk of mortality attributable to the transplant. This risk should be counterbalanced with SCD morbidity and mortality.
View Article and Find Full Text PDFBackground: The diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-scale newborn screening in many countries. These tests however may not easily differentiate Sβ0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin (HBB) gene sequencing may be necessary.
View Article and Find Full Text PDFArticle Synopsis
- Priapism, a painful and persistent erection, is a common complication in patients with sickle cell disease (SCD), and this study aims to explore the clinical and genetic factors linked to it within a large Brazilian cohort.
- The research found that older male patients and those with severe SCD genotypes had a higher incidence of priapism, alongside associations with conditions like pulmonary hypertension and avascular necrosis.
- The study highlights the need for further validation of genetic markers related to priapism and emphasizes the importance of developing standard treatment strategies, particularly for at-risk populations.
Sickle cell disease (SCD) is associated with significant morbidity, and allogeneic hematopoietic stem cell transplantation (HSCT) remains the primary curative treatment. Recently, the Brazilian Ministry of Health released a regulation that required the publically funded healthcare system to pay for HSCT for SCD patients with defined indications. We used an existing 2794-member SCD cohort established during 2013 to 2015 to characterize candidates for HSCT and estimate the number of possible donors.
View Article and Find Full Text PDFApproximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes in the Brazilian SCD population and create the infrastructure to perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites and recruited at routine visits.
View Article and Find Full Text PDFObjective: To verify genetic determinants associated with stroke in children with sickle cell disease (SCD).
Methods: Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke.